TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study
- To evaluate the value of TCR V beta repertoire analysis for the determination of
autoimmunity in refractory cytopenia (RC).
- To evaluate which immunophenotypic hematopoietic subclones are associated with
oligoclonal T-cell expansion in RC.
- To evaluate the presence of paroxysmal nocturnal hemoglobinuria (PNH) clones in RC.
- To compare the molecular response with the hematologic response in patients with RC
after treatment with immunosuppressive therapy (IST).
- To compare the molecular response with human leukocyte histocompatability antigen (HLA)
expression in patients with RC after treatment with IST.
OUTLINE: This is an open-label, multicenter, nonrandomized, prospective study.
Patients undergo biopsy, bone marrow, and blood sample collection periodically for
immunological studies. Samples are analyzed for TCR V beta repertoire and paroxysmal
nocturnal hemoglobinuria (PNH) clone analysis via PCR heteroduplex analysis and
immunophenotyping of CD14, CD16 , CD55, CD59, and CD24 expression via flow cytometry.
Observational Model: Cohort, Time Perspective: Prospective
Number of patients with TCR V beta oligoclonality at diagnosis
Marry M. Van Den Heuvel-Eibrink, MD, PhD
Erasmus MC - Sophia Children's Hospital
Germany: Ethics Commission